Q9BVK2 (ALG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
EC=2.4.1.265

Alternative name(s):
Asparagine-linked glycosylation protein 8 homolog
Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase

Gene names

Name:	ALG8
ORF Names:	HUSSY-02

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	526 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.
Catalytic activity	Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Involvement in disease	Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the ALG6/ALG8 glucosyltransferase family.
Sequence caution	The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital disorder of glycosylation Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	dolichol-linked oligosaccharide biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	alpha-1,3-mannosyltransferase activity Inferred from mutant phenotype Ref.5. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BVK2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9BVK2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     451-526: KEKPLFNWME...DSAIGKTKKQ → RSFTLVAQAGVQWHDLS

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 526	526	Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase		PRO_0000174162
Regions
	Transmembrane	4 – 24	21	Helical; Potential
	Transmembrane	103 – 122	20	Helical; Potential
	Transmembrane	143 – 163	21	Helical; Potential
	Transmembrane	188 – 208	21	Helical; Potential
	Transmembrane	238 – 258	21	Helical; Potential
	Transmembrane	334 – 354	21	Helical; Potential
	Transmembrane	368 – 388	21	Helical; Potential
	Transmembrane	389 – 409	21	Helical; Potential
	Transmembrane	427 – 449	23	Helical; Potential
	Transmembrane	461 – 481	21	Helical; Potential
	Transmembrane	488 – 508	21	Helical; Potential
Natural variations
	Alternative sequence	451 – 526	76	KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2.		VSP_046291
	Natural variant	47	1	T → P in CDG1H. Ref.6		VAR_023480
	Natural variant	222	1	N → S. Ref.1 Ref.6 Corresponds to variant rs665278 [ dbSNP | Ensembl ].		VAR_023481
	Natural variant	275	1	G → D in CDG1H. Ref.6		VAR_023482
	Natural variant	439	1	I → T. Corresponds to variant rs17825668 [ dbSNP | Ensembl ].		VAR_031596
Experimental info
	Sequence conflict	478	1	F → Y in CAA12176. Ref.1
	Sequence conflict	503	1	I → V in AAH01133. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: 71589A4EC09C3BE7	FASTA	526	60,088
	10 20 30 40 50 60 MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT 70 80 90 100 110 120 SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA 130 140 150 160 170 180 VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL 190 200 210 220 230 240 FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS 250 260 270 280 290 300 LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 310 320 330 340 350 360 LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR 370 380 390 400 410 420 GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL 430 440 450 460 470 480 LFTAPELPIK ILLMLLFTIY SISSLKTLFR KEKPLFNWME TFYLLGLGPL EVCCEFVFPF 490 500 510 520 TSWKVKYPFI PLLLTSVYCA VGITYAWFKL YVSVLIDSAI GKTKKQ
	Isoform 2 [UniParc]. Checksum: C790C4A6964929BF	FASTA	467	53,181
	10 20 30 40 50 60 MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL PISQWYYEAT 70 80 90 100 110 120 SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS RTLLFQRFSV IFMDVLFVYA 130 140 150 160 170 180 VRECCKCIDG KKVGKELTEK PKFILSVLLL WNFGLLIVDH IHFQYNGFLF GLMLLSIARL 190 200 210 220 230 240 FQKRHMEGAF LFAVLLHFKH IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS 250 260 270 280 290 300 LGLVVFLVSA LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 310 320 330 340 350 360 LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF CLWFKPQGPR 370 380 390 400 410 420 GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA GDASIFLILT TTGHYSLFPL 430 440 450 460 LFTAPELPIK ILLMLLFTIY SISSLKTLFR RSFTLVAQAG VQWHDLS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of 16 novel human genes showing high similarity to yeast sequences." Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G. Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-222. Tissue: Melanocyte.
[2]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.
[5]	"A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation." Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H. J. Biol. Chem. 278:9962-9971(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
[6]	"Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)." Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G. J. Med. Genet. 41:550-556(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

Web resources

GeneReviews

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ224875 mRNA. Translation: CAA12176.1. Different initiation. AP002520 Genomic DNA. No translation available. CH471076 Genomic DNA. Translation: EAW75050.1. BC001133 mRNA. Translation: AAH01133.1.
IPI	IPI00032370. IPI00550318.
RefSeq	NP_001007028.1. NM_001007027.2. NP_076984.2. NM_024079.4.
UniGene	Hs.503368.
3D structure databases
ProteinModelPortal	Q9BVK2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BVK2. 2 interactions.
STRING	9606.ENSP00000299626.
Protein family/group databases
CAZy	GT57. Glycosyltransferase Family 57.
PTM databases
PhosphoSite	Q9BVK2.
Polymorphism databases
DMDM	143811361.
Proteomic databases
PaxDb	Q9BVK2.
PRIDE	Q9BVK2.
Protocols and materials databases
DNASU	79053.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299626; ENSP00000299626; ENSG00000159063. ENST00000376156; ENSP00000365326; ENSG00000159063.
GeneID	79053.
KEGG	hsa:79053.
UCSC	uc001oza.1. human.
Organism-specific databases
CTD	79053.
GeneCards	GC11M077811.
HGNC	HGNC:23161. ALG8.
HPA	HPA051898.
MIM	608103. gene. 608104. phenotype.
neXtProt	NX_Q9BVK2.
Orphanet	79325. CDG syndrome type Ih.
PharmGKB	PA134942124.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG277067.
HOGENOM	HOG000168174.
HOVERGEN	HBG024332.
InParanoid	Q9BVK2.
KO	K03849.
OMA	FKHIFLY.
OrthoDB	EOG4XKV6N.
PhylomeDB	Q9BVK2.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q9BVK2.
Bgee	Q9BVK2.
CleanEx	HS_ALG8.
Genevestigator	Q9BVK2.
GermOnline	ENSG00000159063. Homo sapiens.
Family and domain databases
InterPro	IPR004856. Glyco_trans_ALG6/ALG8. [Graphical view]
PANTHER	PTHR12413. PTHR12413. 1 hit.
Pfam	PF03155. Alg6_Alg8. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	79053.
NextBio	67803.
SOURCE	Search...

Entry information

Entry name

ALG8_HUMAN

Accession

Primary (citable) accession number: Q9BVK2
Secondary accession number(s): A6NDW6, O60860

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 27, 2002
Last sequence update:	April 3, 2007
Last modified:	May 1, 2013
This is version 112 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.